Canonical Allele Identifier: CA64793818

Gene: BARD1

Linked Data

• dbSNP Id: rs2228455
• MyVariant Identifiers: chr2:g.215595179T>G (hg19) ; chr2:g.214730455T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730455T>G , CM000664.2:g.214730455T>G	GRCh38
NC_000002.11:g.215595179T>G , CM000664.1:g.215595179T>G	GRCh37
NC_000002.10:g.215303424T>G	NCBI36
NG_012047.2:g.84250A>C
NG_012047.3:g.84257A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.1957A>C MANE Select	ENSP00000260947.4:p.Ile653Leu
ENST00000421162.2:c.604A>C	ENSP00000392245.2:p.Ile202Leu
ENST00000613192.2:c.*20A>C	ENSP00000483275.2:n.*20A>C
ENST00000613374.5:c.547A>C	ENSP00000484464.1:p.Ile183Leu
ENST00000613706.5:c.1549A>C	ENSP00000484976.2:p.Ile517Leu
ENST00000617164.5:c.1900A>C	ENSP00000480470.1:p.Ile634Leu
ENST00000619009.5:c.418A>C	ENSP00000482293.1:p.Ile140Leu
ENST00000650978.1:c.3332A>C
ENST00000260947.8:c.1957A>C	ENSP00000260947.4:p.Ile653Leu
ENST00000421162.1:c.604A>C	ENSP00000392245.1:p.Ile202Leu
ENST00000432456.5:c.54A>C
ENST00000455743.5:c.*1577A>C	ENSP00000412186.1:n.*1577A>C
ENST00000471590.5:n.292A>C
ENST00000613192.1:c.127A>C	ENSP00000483275.1:p.Ile43Leu
ENST00000613374.4:c.547A>C	ENSP00000484464.1:p.Ile183Leu
ENST00000613706.4:c.604A>C	ENSP00000484976.1:p.Ile202Leu
ENST00000617164.4:c.1900A>C	ENSP00000480470.1:p.Ile634Leu
ENST00000619009.4:c.418A>C	ENSP00000482293.1:p.Ile140Leu
ENST00000620057.4:c.*623A>C	ENSP00000481988.1:n.*623A>C
NM_000465.3:c.1957A>C	NP_000456.2:p.Ile653Leu
NM_001282543.1:c.1900A>C	NP_001269472.1:p.Ile634Leu
NM_001282545.1:c.604A>C	NP_001269474.1:p.Ile202Leu
NM_001282548.1:c.547A>C	NP_001269477.1:p.Ile183Leu
NM_001282549.1:c.418A>C	NP_001269478.1:p.Ile140Leu
NR_104212.1:n.1950A>C
NR_104215.1:n.1893A>C
NR_104216.1:n.1149A>C
XM_011511567.1:c.1903A>C	XP_011509869.1:p.Ile635Leu
XM_017004613.1:c.2056A>C	XP_016860102.1:p.Ile686Leu
XR_002959322.1:n.2147A>C
NM_000465.4:c.1957A>C MANE Select	NP_000456.2:p.Ile653Leu
NM_001282543.2:c.1900A>C	NP_001269472.1:p.Ile634Leu
NM_001282545.2:c.604A>C	NP_001269474.1:p.Ile202Leu
NM_001282548.2:c.547A>C	NP_001269477.1:p.Ile183Leu
NM_001282549.2:c.418A>C	NP_001269478.1:p.Ile140Leu
NR_104212.2:n.1922A>C
NR_104215.2:n.1865A>C
NR_104216.2:n.1121A>C